HD (the gene encoding the huntingtin protein) is a gene in which a expansion of a (CAG)n repeat within the coding region cause Huntington's disease.
Variable expression of the could be responsible for the variable penetrance of Huntington's disease, given that variation in HD protein levels occurs within the human striatum and cell types where increased expression corresponds to affected sites.
An uORF is present within the 5'untraslated region of the HD mRNA. This uORF encode a polypeptide of......

::Features

::References

ID

[1]

Authors

Lee J, Park EH, Couture G, Harvey I, Garneau P, Pelletier J

Title

An upstream open reading frame impedes translation of the huntingtin gene